Polymorphism in the promoter region of the apolipoprotein AI gene associated with differences in apolipoprotein AI levels: The European Atherosclerosis Research Study

✍ Scribed by Dr. Philippa J. Talmud; Shu Ye; Steve E. Humphries

• Publisher: John Wiley and Sons
• Year: 1994
• Tongue: English
• Weight: 938 KB
• Volume: 11
• Category: Article
• ISSN: 0741-0395
• DOI: 10.1002/gepi.1370110305

✦ Synopsis

The effect associated with the substitution of adenine (A) for guanidine (G) in the promoter region of the apolipoprotein A1 gene (-75 bp) with plasma apo A1 and high-density lipoprotein (HDL) levels was investigated in the European Atherosclerosis Research Study (EARS). This is a study of healthy offspring (cases) of fathers who had suffered premature myocardial infarction (MI) before age 55 years ( n = 565) and age-and sex-matched controls (n = 1,078) from 12 European countries, divided into 5 regions based on geography and language. The frequency of the polymorphism was not significantly different among the regions and the relative frequency of the rare A allele was similar in cases and controls (0.159 vs. 0.142) combining data from all regions. Individuals with one or more A allele had significantly higher plasma apo A1 levels (P < 0.05) than individuals homozygous for the G allele. This effect was consistent in all regions. The data were analyzed separately in males and females. In females, those with one or more A allele had significantly higher apo A1 levels (P = 0.05) than individuals homozygous for the G allele, and this raising effect of the A allele was greater in cases than controls for both apo A1 (5.23% vs. 1.56%) and HDL (4.48% vs. 1.89%). In males, the A allele was associated with higher levels of apo A1 and HDL, but the effect was much smaller and the differences did not reach statistical significance. In the females, where the effect of the A allele was strongest, the effect on apo A1 associated with genotype was evident in non-smokers, and individuals with one or two A alleles had